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6 Cards in this Set
- Front
- Back
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BRCA1:
inheritance which chromosome structure function When to suspect BRCA gene mutation: |
AD inheritance
tumor suppressor on chromosome 17 2 motifs - ring finger at C-terminus, BRCT domain at N-terminus may be involved in DNA repair early onset breast ca <50 y/o, bilat disease, family hx, male hx |
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Explain incomplete penetrance of this gene:
BRCA2: inheritance which chromosome differences between BRCA1,2: |
not all daughters of affected women will get cancer
AD inheritance chromosome 13 no recognizable motifs - both interact with RAD1 protein at sites of DNA damage |
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Explain founder mutation in BRCA:
Problems in targeted analysis: What is there is a mutation in the proband region? |
3 in Ashkenazi Jewish population account for most of BRCA1/2 cancer - "3 mutation test"
only 3 mutations detected, may be others, false negatives increased risk of BRCA1/2+ cancers |
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Gene involved in Li-Fraumeni syndrome:
Risk for what cancers? |
TP53 - Chr 17 - AD inheritance
breast ca in adults, bone/ST sarcoma in kids |
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Multiple hamartoma syndrome, high risk of tumors of breast, thyroid, endometrium, macrocephaly, trichelemmomas, papillomatous papules:
inheritance, which gene? |
Cowden syndrome
AD, PTEN mutation on Chr 10 |
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Benefits, risks of BRCA testing:
Compare BRCA1/2: |
ID's high risk individuals, non-carriers in families w/ mutation, allows early detection/prevention, may relieve anxiety
does not detect all mutations, continued risk of sporadic cancer, psychological harm 1 - typically younger, more medullary carcinomas, P53 2 - older onset, higher male/female breast ca |
